ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.246C>T (p.Cys82=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005166549 SCV005802680 likely benign Dyskeratosis congenita 2024-12-08 criteria provided, single submitter clinical testing

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